Træk
Abnormal color vision
Klinisk navn: Color vision defect
An anomaly in the ability to discriminate between or recognize colors.
Resumé
- Også kaldet
- Abnormality of color vision, Color vision defect, severe, Color vision defects, Abnormal colour vision, Abnormality of colour vision, Colour vision defect, Disturbed color vision, Disturbed colour vision
- Kropssystem
- Abnormality of the eye
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Bestil min Genome Test213 gener knyttet til Abnormal color vision
Ændringer i disse gener forårsager sjældne tilstande, hvor Abnormal color vision ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Altid | I 4 tilstande |
| CRXcone-rod homeobox | Altid | I 3 tilstande |
| PDXKpyridoxal kinase | Altid | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Altid | I 3 tilstande |
| RPGRIP1RPGR interacting protein 1 | Altid | I 3 tilstande |
| RTN4IP1reticulon 4 interacting protein 1 | Altid | I 1 tilstand |
| TULP1TUB like protein 1 | Altid | I 2 tilstande |
| UBAP1Lubiquitin associated protein 1 like | Altid | I 2 tilstande |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ATF6activating transcription factor 6 | Meget ofte (80–99 %) | I 2 tilstande |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Meget ofte (80–99 %) | I 3 tilstande |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Meget ofte (80–99 %) | I 2 tilstande |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Meget ofte (80–99 %) | I 3 tilstande |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Meget ofte (80–99 %) | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Meget ofte (80–99 %) | I 1 tilstand |
| GNAT2G protein subunit alpha transducin 2 | Meget ofte (80–99 %) | I 2 tilstande |
| GUCA1Aguanylate cyclase activator 1A | Meget ofte (80–99 %) | I 2 tilstande |
| PDE6Cphosphodiesterase 6C | Meget ofte (80–99 %) | I 2 tilstande |
| PDE6Hphosphodiesterase 6H | Meget ofte (80–99 %) | I 1 tilstand |
| PROM1prominin 1 | Meget ofte (80–99 %) | I 4 tilstande |
| PRPH2peripherin 2 | Meget ofte (80–99 %) | I 5 tilstande |
| RPGRretinitis pigmentosa GTPase regulator | Meget ofte (80–99 %) | I 5 tilstande |
| ADAM9ADAM metallopeptidase domain 9 | Ofte (30–79 %) | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Ofte (30–79 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Ofte (30–79 %) | I 2 tilstande |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Ofte (30–79 %) | I 2 tilstande |
| BBIP1BBSome interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ofte (30–79 %) | I 2 tilstande |
| BBS10Bardet-Biedl syndrome 10 | Ofte (30–79 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Ofte (30–79 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Ofte (30–79 %) | I 2 tilstande |
| BBS4Bardet-Biedl syndrome 4 | Ofte (30–79 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Ofte (30–79 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Ofte (30–79 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Ofte (30–79 %) | I 1 tilstand |
| BEST1bestrophin 1 | Ofte (30–79 %) | I 4 tilstande |
| CABP4calcium binding protein 4 | Ofte (30–79 %) | I 2 tilstande |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Ofte (30–79 %) | I 1 tilstand |
| CDHR1cadherin related family member 1 | Ofte (30–79 %) | I 3 tilstande |
Vis 173 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| CEP19centrosomal protein 19 | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Ofte (30–79 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Ofte (30–79 %) | I 3 tilstande |
| DNM1Ldynamin 1L | Ofte (30–79 %) | I 1 tilstand |
| DRAM2DNA damage regulated autophagy modulator 2 | Ofte (30–79 %) | I 1 tilstand |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Ofte (30–79 %) | I 2 tilstande |
| GUCY2Dguanylate cyclase 2D, retinal | Ofte (30–79 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Ofte (30–79 %) | I 2 tilstande |
| IFT27intraflagellar transport 27 | Ofte (30–79 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Ofte (30–79 %) | I 1 tilstand |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Ofte (30–79 %) | I 2 tilstande |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Ofte (30–79 %) | I 2 tilstande |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Ofte (30–79 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Ofte (30–79 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Ofte (30–79 %) | I 2 tilstande |
| LZTFL1leucine zipper transcription factor like 1 | Ofte (30–79 %) | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Ofte (30–79 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Ofte (30–79 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Ofte (30–79 %) | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 2 tilstande |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ofte (30–79 %) | I 1 tilstand |
| OPN1LWopsin 1, long wave sensitive | Ofte (30–79 %) | I 2 tilstande |
| OPN1MWopsin 1, medium wave sensitive | Ofte (30–79 %) | I 2 tilstande |
| OTX2orthodenticle homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| PITPNM3PITPNM family member 3 | Ofte (30–79 %) | I 2 tilstande |
| POC1BPOC1 centriolar protein B | Ofte (30–79 %) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Ofte (30–79 %) | I 1 tilstand |
| RAB28RAB28, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RAX2retina and anterior neural fold homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| RIMS1regulating synaptic membrane exocytosis 1 | Ofte (30–79 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Ofte (30–79 %) | I 2 tilstande |
| SCAPERS-phase cyclin A associated protein in the ER | Ofte (30–79 %) | I 2 tilstande |
| SCLT1sodium channel and clathrin linker 1 | Ofte (30–79 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Ofte (30–79 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Ofte (30–79 %) | I 2 tilstande |
| SPATA7spermatogenesis associated 7 | Ofte (30–79 %) | I 2 tilstande |
| TLCD3BTLC domain containing 3B | Ofte (30–79 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Ofte (30–79 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Ofte (30–79 %) | I 2 tilstande |
| TTLL5tubulin tyrosine ligase like 5 | Ofte (30–79 %) | I 1 tilstand |
| UNC119unc-119 lipid binding chaperone | Ofte (30–79 %) | I 2 tilstande |
| WDPCPWD repeat containing planar cell polarity effector | Ofte (30–79 %) | I 1 tilstand |
| ADGRV1adhesion G protein-coupled receptor V1 | Nogle gange (5–29 %) | I 1 tilstand |
| AGBL5AGBL carboxypeptidase 5 | Nogle gange (5–29 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AHRaryl hydrocarbon receptor | Nogle gange (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Nogle gange (5–29 %) | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CA4carbonic anhydrase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Nogle gange (5–29 %) | I 1 tilstand |
| CERKLCERK like autophagy regulator | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Nogle gange (5–29 %) | I 1 tilstand |
| CHMCHM Rab escort protein | Nogle gange (5–29 %) | I 1 tilstand |
| CLRN1clarin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| COQ8Bcoenzyme Q8B | Nogle gange (5–29 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Nogle gange (5–29 %) | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EYSEGF-like photoreceptor maintenance factor | Nogle gange (5–29 %) | I 1 tilstand |
| FAM161AFAM161 centrosomal protein A | Nogle gange (5–29 %) | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FSCN2fascin actin-bundling protein 2, retinal | Nogle gange (5–29 %) | I 1 tilstand |
| GUCA1Bguanylate cyclase activator 1B | Nogle gange (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| HKDC1hexokinase domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT88intraflagellar transport 88 | Nogle gange (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Nogle gange (5–29 %) | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA1549KIAA1549 | Nogle gange (5–29 %) | I 1 tilstand |
| KIZkizuna centrosomal protein | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL7kelch like family member 7 | Nogle gange (5–29 %) | I 1 tilstand |
| LRRK2leucine rich repeat kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAKmale germ cell associated kinase | Nogle gange (5–29 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MYO7Amyosin VIIA | Nogle gange (5–29 %) | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Nogle gange (5–29 %) | I 1 tilstand |
| NEK2NIMA related kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NRLneural retina leucine zipper | Nogle gange (5–29 %) | I 1 tilstand |
| PARK7Parkinsonism associated deglycase | Nogle gange (5–29 %) | I 1 tilstand |
| PCAREphotoreceptor cilium actin regulator | Nogle gange (5–29 %) | I 1 tilstand |
| PDE6Aphosphodiesterase 6A | Nogle gange (5–29 %) | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Nogle gange (5–29 %) | I 1 tilstand |
| PDE6Gphosphodiesterase 6G | Nogle gange (5–29 %) | I 1 tilstand |
| PDZD7PDZ domain containing 7 | Nogle gange (5–29 %) | I 1 tilstand |
| PINK1PTEN induced kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PODXLpodocalyxin like | Nogle gange (5–29 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Nogle gange (5–29 %) | I 1 tilstand |
| PRCDphotoreceptor disc component | Nogle gange (5–29 %) | I 1 tilstand |
| PRKNparkin RBR E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| PROK2prokineticin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PRPF3pre-mRNA processing factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PRPF31pre-mRNA processing factor 31 | Nogle gange (5–29 %) | I 1 tilstand |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Nogle gange (5–29 %) | I 1 tilstand |
| PRPF6pre-mRNA processing factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| PRPF8pre-mRNA processing factor 8 | Nogle gange (5–29 %) | I 1 tilstand |
| RBP3retinol binding protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Nogle gange (5–29 %) | I 1 tilstand |
| REEP6receptor accessory protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| RGRretinal G protein coupled receptor | Nogle gange (5–29 %) | I 1 tilstand |
| RHOrhodopsin | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU6-1RNA, U6 small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU6-2RNA, U6 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU6-8RNA, U6 small nuclear 8 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU6-9RNA, U6 small nuclear 9 | Nogle gange (5–29 %) | I 1 tilstand |
| ROM1retinal outer segment membrane protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Nogle gange (5–29 %) | I 1 tilstand |
| RP1L1RP1 like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Nogle gange (5–29 %) | I 1 tilstand |
| SAGS-antigen visual arrestin | Nogle gange (5–29 %) | I 1 tilstand |
| SAXO6stabilizer of axonemal microtubules 6 | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Nogle gange (5–29 %) | I 1 tilstand |
| SLC7A14solute carrier family 7 member 14 | Nogle gange (5–29 %) | I 1 tilstand |
| SNCAsynuclein alpha | Nogle gange (5–29 %) | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SPRY4sprouty RTK signaling antagonist 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Nogle gange (5–29 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Nogle gange (5–29 %) | I 1 tilstand |
| TUBTUB bipartite transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Nogle gange (5–29 %) | I 1 tilstand |
| USH2Ausherin | Nogle gange (5–29 %) | I 2 tilstande |
| VPS13Cvacuolar protein sorting 13 homolog C | Nogle gange (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| WHRNwhirlin | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF513zinc finger protein 513 | Nogle gange (5–29 %) | I 1 tilstand |
| MFN2mitofusin 2 | Ikke registreret | I 1 tilstand |
| OPN1SWopsin 1, short wave sensitive | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger